Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Aldinger, Kimberly A.; Dempsey, Jennifer C.; Tully, Hannah M.; Grout, Megan E.; Mehaffey, Michele G.; Dobyns, William B.; Doherty, Dan

doi:10.1002/ajmg.c.31666

Cited by 32 publications

(23 citation statements)

References 35 publications

(48 reference statements)

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“…Rush et al (2013) evaluated four patients with GLHS using comparative genomic hybridization and found no copy number variations that could explain the syndrome. Moreover, recently, Aldinger et al (2018) used exome sequencing for 59 probands with RES, but did not find a candidate gene. They also found a monozygotic (MZ) twin pair discordant for the RES phenotype.…”

Section: Resultsmentioning

confidence: 99%

“…They also found a monozygotic (MZ) twin pair discordant for the RES phenotype. It is known that a discordant phenotype in MZ twins could be explained by somatic mosaicism or imprinting disorders; moreover, MZ twins have an increased risk for structural defects associated with presumed prenatal vascular perfusion deficiency (Aldinger et al 2018).…”

Section: Resultsmentioning

confidence: 99%

“…Few studies of environmental factors that could contribute to the phenotype have been performed. Aldinger et al (2018) interviewed mothers of children with RES in their cohort, but did not identify any obvious pregnancy exposures (medications, high fever, illicit drug or alcohol use, severe illness, trauma), although diabetes and the use of assisted reproduction were reported by some mothers. Rush et al (2013) also reported a patient who was born after an in vitro fertilization procedure.…”

Section: Resultsmentioning

confidence: 99%

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Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Perrone

D’Almeida

Sobreira

et al. 2020

American J of Med Genetics Pt A

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Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Perrone

D’Almeida

Sobreira

et al. 2020

American J of Med Genetics Pt A

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“…Die Rhombenzephalosynapsis ist charakterisiert durch ein komplettes, in seltenen Fällen partielles Fehlen des Vermis und einer Fusion der beiden Kleinhirnhemisphären und der Pedunculi cerebelli [66]. genetic cause is assumed, no specific genetic mutation could be identified so far [67].…”

Section: Rhombenzephalosynapsis (Res)unclassified

The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Pertl¹,

Eder²,

Stern³

et al. 2019

Ultraschall in Med

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Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. In this article the longitudinal development of the posterior fossa structures will be reviewed. The embryologic description will be compared with ultrasound descriptions. These embryologic and anatomic illustrations form the basis for the screening and diagnosis of malformations of the posterior fossa. During the first trimester, screening for open spina bifida as well as cystic malformations of the posterior fossa is possible. In the second and third trimester, malformations of the posterior fossa can be subdivided into 3 groups: fluid accumulation in the posterior fossa (Dandy-Walker malformation, Blake’s pouch cyst, mega cisterna magna, arachnoid cyst, vermian hypoplasia), decreased cerebellar biometrics (volume) (cerebellar hypoplasia, pontocerebellar hypoplasia) and suspicious cerebellar anatomy (Arnold-Chiari malformation, rhombencephalosynapsis, Joubert syndrome). This algorithm, in combination with knowledge of normal development, facilitates the diagnostic workup of malformations of the posterior fossa.

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“…Some patients with this malformation also have features of VACTERL association (MIM 192350), a commonly reported and nonrandom co‐occurrence of multiple congenital malformations (Quan & Smith, ). In their contributions, Aldinger and Doherty and Solomon, respectively, enumerate the large number of approaches attempted to date, as well as plausible mechanisms and strategies going forward to resolve these disorders (Aldinger et al, ; Solomon, ). Both papers have cited recent and interesting work (Shi et al, ; Sparrow et al, ) suggesting the contribution of gene–environment interactions in patients with multiple congenital anomalies, including vertebral and cardiac defects.…”

Section: Themes Of the Issuementioning

confidence: 99%

Unsolved recognizable patterns of human malformation: Challenges and opportunities

2018

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Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular mechanisms underlying most of the frequent and recognizable human malformation syndromes. However, some well‐established human malformation syndromes remain without a molecular diagnosis despite intensive investigation. This issue of Seminars mines the phenotypic entries in OMIM and estimates that of the documented 2,034 unsolved entries likely to represent a rare genetic disease, only 160 are well‐established and possibly amenable to investigation. This issue also reviews well‐characterized and extensively investigated human malformation syndromes and associations that remain unsolved, including the following: Dubowitz syndrome (MIM 223370%), Hallermann–Streiff syndrome (MIM 234100%), PHACE syndrome (MIM 606519), Oculocerebrocutaneous syndrome (MIM 164180), Aicardi syndrome (MIM 304050%), Gomez–Lopez–Hernandez syndrome and Rhombencephalosynapsis (MIM 601853%), VACTERL (MIM 192350%), and Nablus syndrome (MIM #608156). Possible explanations for their intractability to molecular diagnosis are explored, including genetic and phenotypic heterogeneity, mosaicism, epigenetics, gene–environment interactions, and other non‐Mendelian contributions. Finally, this issue of Seminars presents a path forward for these unsolved rare conditions and suggests a renewed focus on solving amendable OMIM disorders. It is clear that the way forward will require new technologies, global cooperation, and data sharing; these will also be necessary to help reach the vision of the International Rare Diseases Research Consortium (IRDiRC), that is to enable all people living with a rare disease to receive an accurate diagnosis, care and available therapy within 1 year of coming to medical attention.

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Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Cited by 32 publications

References 35 publications

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Unsolved recognizable patterns of human malformation: Challenges and opportunities

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